Canonical Allele Identifier: CA360866867

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118824887A>G (hg19) ; chr5:g.119489192A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119489192A>G , CM000667.2:g.119489192A>G	GRCh38
NC_000005.9:g.118824887A>G , CM000667.1:g.118824887A>G	GRCh37
NC_000005.8:g.118852786A>G	NCBI36
NG_008182.1:g.41740A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.623A>G	ENSP00000426272.2:p.Asp208Gly
ENST00000518349.6:c.113-7351A>G	ENSP00000507185.1:n.113-7351A>G
ENST00000682445.1:c.*504A>G	ENSP00000508061.1:n.*504A>G
ENST00000682531.1:n.724A>G
ENST00000682626.1:c.*129A>G	ENSP00000507857.1:n.*129A>G
ENST00000682996.1:c.623A>G	ENSP00000507792.1:p.Asp208Gly
ENST00000683265.1:n.716A>G
ENST00000683371.1:c.*753A>G	ENSP00000508376.1:n.*753A>G
ENST00000683390.1:n.2313A>G
ENST00000683549.1:n.544A>G
ENST00000683936.1:c.*508A>G	ENSP00000507721.1:n.*508A>G
ENST00000683974.1:n.705A>G
ENST00000683996.1:c.212A>G	ENSP00000507060.1:p.Asp71Gly
ENST00000684131.1:n.462A>G
ENST00000684160.1:c.*313A>G	ENSP00000507821.1:n.*313A>G
ENST00000684214.1:c.623A>G	ENSP00000508071.1:p.Asp208Gly
ENST00000414835.7:c.698A>G	ENSP00000411960.3:p.Asp233Gly
ENST00000510025.7:c.623A>G MANE Select	ENSP00000424940.3:p.Asp208Gly
ENST00000643250.1:c.*495A>G	ENSP00000494737.1:n.*495A>G
ENST00000644146.1:c.*201A>G	ENSP00000494808.1:n.*201A>G
ENST00000645099.1:c.182A>G	ENSP00000496091.1:p.Asp61Gly
ENST00000645702.1:c.*26A>G	ENSP00000496432.1:n.*26A>G
ENST00000645832.1:c.*508A>G	ENSP00000494316.1:n.*508A>G
ENST00000646058.1:c.623A>G	ENSP00000493579.1:p.Asp208Gly
ENST00000646355.1:c.*629A>G	ENSP00000493801.1:n.*629A>G
ENST00000646554.1:c.*601A>G	ENSP00000494542.1:n.*601A>G
ENST00000647335.1:c.*590A>G	ENSP00000495180.1:n.*590A>G
ENST00000647342.1:c.*554A>G	ENSP00000494992.1:n.*554A>G
ENST00000256216.10:c.623A>G	ENSP00000256216.6:p.Asp208Gly
ENST00000414835.6:c.203A>G	ENSP00000411960.2:p.Asp68Gly
ENST00000442060.7:c.623A>G	ENSP00000390208.3:p.Asp208Gly
ENST00000504811.5:c.698A>G	ENSP00000420914.1:p.Asp233Gly
ENST00000505181.5:n.326A>G
ENST00000509514.5:c.-262A>G	ENSP00000426272.1:n.-262A>G
ENST00000510025.5:c.551A>G	ENSP00000424940.1:p.Asp184Gly
ENST00000512644.1:n.191A>G
ENST00000513628.5:c.212A>G	ENSP00000425993.1:p.Asp71Gly
ENST00000515235.6:n.683A>G
ENST00000515320.5:c.569A>G	ENSP00000424613.1:p.Asp190Gly
NM_000414.3:c.623A>G	NP_000405.1:p.Asp208Gly
NM_001199291.2:c.698A>G	NP_001186220.1:p.Asp233Gly
NM_001199292.1:c.569A>G	NP_001186221.1:p.Asp190Gly
NM_001292027.1:c.551A>G	NP_001278956.1:p.Asp184Gly
NM_001292028.1:c.203A>G	NP_001278957.1:p.Asp68Gly
NM_000414.4:c.623A>G MANE Select	NP_000405.1:p.Asp208Gly
NM_001199291.3:c.698A>G	NP_001186220.1:p.Asp233Gly
NM_001199292.2:c.569A>G	NP_001186221.1:p.Asp190Gly
NM_001292027.2:c.551A>G	NP_001278956.1:p.Asp184Gly
NM_001292028.2:c.203A>G	NP_001278957.1:p.Asp68Gly
NM_001374497.1:c.614A>G	NP_001361426.1:p.Asp205Gly
NM_001374498.1:c.623A>G	NP_001361427.1:p.Asp208Gly
NM_001374499.1:c.296A>G	NP_001361428.1:p.Asp99Gly
NM_001374500.1:c.182A>G	NP_001361429.1:p.Asp61Gly
NM_001374501.1:c.212A>G	NP_001361430.1:p.Asp71Gly
NM_001374502.1:c.212A>G	NP_001361431.1:p.Asp71Gly
NM_001374503.1:c.212A>G	NP_001361432.1:p.Asp71Gly
NR_164653.1:n.702A>G
NR_164654.1:n.890A>G